Genomics, type 2 diabetes, and obesity

MI McCarthy - New England Journal of Medicine, 2010 - Mass Medical Soc
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Uric acid transport and disease

A So, B Thorens - The Journal of clinical investigation, 2010 - Am Soc Clin Investig
Uric acid is the metabolic end product of purine metabolism in humans. It has antioxidant
properties that may be protective but can also be pro-oxidant, depending on its chemical …

En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH

M Kimura, T Iguchi, K Iwasawa, A Dunn, WL Thompson… - Cell, 2022 - cell.com
Genotype-phenotype associations for common diseases are often compounded by
pleiotropy and metabolic state. Here, we devised a pooled human organoid-panel of …

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

J Dupuis, C Langenberg, I Prokopenko, R Saxena… - Nature …, 2010 - nature.com
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic
traits, we performed meta-analyses of 21 genome-wide association studies informative for …

Genotype imputation from large reference panels

S Das, GR Abecasis, BL Browning - Annual review of genomics …, 2018 - annualreviews.org
Genotype imputation has become a standard tool in genome-wide association studies
because it enables researchers to inexpensively approximate whole-genome sequence …

Hepatic NADH reductive stress underlies common variation in metabolic traits

RP Goodman, AL Markhard, H Shah, R Sharma… - Nature, 2020 - nature.com
The cellular NADH/NAD+ ratio is fundamental to biochemistry, but the extent to which it
reflects versus drives metabolic physiology in vivo is poorly understood. Here we report the …

Genotype imputation

Y Li, C Willer, S Sanna… - Annual review of genomics …, 2009 - annualreviews.org
Genotype imputation is now an essential tool in the analysis of genome-wide association
scans. This technique allows geneticists to accurately evaluate the evidence for association …

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

R Saxena, MF Hivert, C Langenberg, T Tanaka… - Nature …, 2010 - nature.com
Glucose levels 2 h after an oral glucose challenge are a clinical measure of glucose
tolerance used in the diagnosis of type 2 diabetes. We report a meta-analysis of nine …

Variants in MTNR1B influence fasting glucose levels

I Prokopenko, C Langenberg, JC Florez, R Saxena… - Nature …, 2009 - nature.com
To identify previously unknown genetic loci associated with fasting glucose concentrations,
we examined the leading association signals in ten genome-wide association scans …

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

M Kolz, T Johnson, S Sanna, A Teumer, V Vitart… - PLoS …, 2009 - journals.plos.org
Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease
and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a …